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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia 7
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Accession:DOID:0070302 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: EDM7
 primary_id: OMIM:617719
 alt_id: DOID:9007514;   RDO:9005161
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multiple epiphyseal dysplasia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia 7 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
              osteochondrodysplasia 408
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia 7 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.