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ONTOLOGY REPORT - ANNOTATIONS


Term:OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
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Accession:DOID:9000003 term browser browse the term
Definition:A rare condition characterized by developmental delay, hypotonia, and distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones. The shafts of the long bones are osteopenic. (OMIM)
Synonyms:exact_synonym: OSMD
 primary_id: OMIM:615198
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OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrk1 leucine-rich repeat kinase 1 JBrowse link 1 127,166,866 127,301,053 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Neurodevelopmental Disorders 4067
        Developmental Disabilities 362
          OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                osteosclerosis 44
                  OSTEOSCLEROTIC METAPHYSEAL 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.