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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia 3
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Accession:DOID:0070304 term browser browse the term
Definition:A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: EDM3;   multiple epiphyseal dysplasia 3 with or without myopathy
 narrow_synonym: multiple epiphyseal dysplasia 3 with myopathy
 primary_id: MESH:C535503
 alt_id: DOID:9004800;   OMIM:600969;   RDO:0000645
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multiple epiphyseal dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a3 collagen type IX alpha 3 chain JBrowse link 3 176,102,287 176,124,839 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia due to collagen 9 anomaly 3
              multiple epiphyseal dysplasia 3 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
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia due to collagen 9 anomaly 3
                    multiple epiphyseal dysplasia 3 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.