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ONTOLOGY REPORT - ANNOTATIONS


Term:Doughnut Lesions of Skull, Familial
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Accession:DOID:9008905 term browser browse the term
Synonyms:exact_synonym: CDL;   calvarial doughnut lesions with bone fragility
 narrow_synonym: CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
 primary_id: MESH:C565089
 alt_id: OMIM:126550;   RDO:0013826
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Doughnut Lesions of Skull, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgms2 sphingomyelin synthase 2 JBrowse link 2 236,458,276 236,530,667 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      bone development disease 1001
        Doughnut Lesions of Skull, Familial 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              Doughnut Lesions of Skull, Familial 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.