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ONTOLOGY REPORT - ANNOTATIONS


Term:craniodiaphyseal dysplasia
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Accession:DOID:0080032 term browser browse the term
Definition:An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. (DO)
Synonyms:primary_id: MESH:C562940
 alt_id: OMIM:218300;   RDO:0012440
 xref: GARD:1567
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Craniodiaphyseal Dysplasia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      musculoskeletal system disease 4002
        Musculoskeletal Abnormalities 1198
          Craniofacial Abnormalities 953
            craniodiaphyseal dysplasia 1
              Craniodiaphyseal Dysplasia, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      musculoskeletal system disease 4002
        connective tissue disease 2587
          bone disease 2126
            bone development disease 896
              osteochondrodysplasia 406
                osteosclerosis 43
                  craniodiaphyseal dysplasia 1
                    Craniodiaphyseal Dysplasia, Autosomal Dominant 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.