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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloepimetaphyseal Dysplasia, Genevieve Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nans N-acetylneuraminate synthase JBrowse link 5 62,109,352 62,126,492 RGD:8554872
RGD:11554173
RGD:7240710
G Trim14 tripartite motif-containing 14 JBrowse link 5 62,128,941 62,154,424 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      bone development disease 891
        osteochondrodysplasia 402
          Spondyloepimetaphyseal Dysplasia, Genevieve Type 2
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Spondyloepimetaphyseal Dysplasia, Genevieve Type 2
paths to the root