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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia 6
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Accession:DOID:0070301 term browser browse the term
Definition:A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. (DO)
Synonyms:exact_synonym: EDM6
 primary_id: OMIM:614135
 alt_id: DOID:9005273;   RDO:9000296
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multiple epiphyseal dysplasia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a1 collagen, type IX, alpha 1 JBrowse link 1 24,177,589 24,252,738 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12560
    Developmental Diseases 8555
      bone development disease 995
        osteochondrodysplasia 405
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia due to collagen 9 anomaly 3
              multiple epiphyseal dysplasia 6 1
Path 2
Term Annotations click to browse term
  disease 12560
    disease of anatomical entity 12169
      musculoskeletal system disease 3898
        connective tissue disease 2406
          bone disease 1861
            bone development disease 995
              osteochondrodysplasia 405
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia due to collagen 9 anomaly 3
                    multiple epiphyseal dysplasia 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.