Term:Spondyloepimetaphyseal Dysplasia, Genevieve Type
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Accession:DOID:9003136 term browser browse the term
Synonyms:exact_synonym: NANS DEFICIENCY;   SEMD, Genevieve Type;   SEMDG
 primary_id: MESH:C535785;   RDO:0001091
 alt_id: OMIM:610442
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Spondyloepimetaphyseal Dysplasia, Genevieve Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nans N-acetylneuraminic acid synthase (sialic acid synthase) JBrowse link 4 46,489,329 46,503,438 RGD:8554872
G Trim14 tripartite motif-containing 14 JBrowse link 4 46,505,072 46,536,154 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11829
    Developmental Diseases 7517
      bone development disease 889
        osteochondrodysplasia 401
          Spondyloepimetaphyseal Dysplasia, Genevieve Type 2
Path 2
Term Annotations click to browse term
  disease 11829
    disease of anatomical entity 11278
      nervous system disease 8560
        central nervous system disease 6591
          brain disease 6114
            disease of mental health 4210
              developmental disorder of mental health 2633
                specific developmental disorder 1764
                  intellectual disability 1617
                    Spondyloepimetaphyseal Dysplasia, Genevieve Type 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.