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ONTOLOGY REPORT - ANNOTATIONS


Term:Autosomal Recessive Craniometaphyseal Dysplasia
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Accession:DOID:9007245 term browser browse the term
Synonyms:exact_synonym: CMDR;   craniometaphyseal dysplasia, autosomal recessive type
 primary_id: MESH:C536570
 alt_id: OMIM:218400;   RDO:0002190
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Autosomal Recessive Craniometaphyseal Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        dysostosis 303
          Crouzon syndrome 24
            Autosomal Recessive Craniometaphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              dysostosis 303
                synostosis 202
                  craniosynostosis 166
                    Crouzon syndrome 24
                      Autosomal Recessive Craniometaphyseal Dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.