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ONTOLOGY REPORT - ANNOTATIONS


Term:Jansen's metaphyseal chondrodysplasia
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Accession:DOID:0080020 term browser browse the term
Definition:A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. (DO)
Synonyms:exact_synonym: Jansen Type Metaphyseal Chondrodysplasia;   Jansen disease;   Jansen metaphyseal chondrodysplasia;   Jansen metaphyseal dysostosis;   metaphyseal chondrodysplasia Murk Jansen type
 primary_id: MESH:C537564
 alt_id: OMIM:156400;   RDO:0003428
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Jansen's metaphyseal chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          metaphyseal dysplasia 5
            Jansen's metaphyseal chondrodysplasia 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                metaphyseal dysplasia 5
                  Jansen's metaphyseal chondrodysplasia 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.