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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia 5
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Accession:DOID:0070299 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. (DO)
Synonyms:exact_synonym: BHMED;   EDM5;   Multiple epiphyseal dysplasia, MATN3 related;   bilateral hereditary microepiphyseal dysplasia
 primary_id: MESH:C535505
 alt_id: DOID:9004020;   OMIM:607078;   RDO:0000647
 xref: GARD:9794;   ORDO:93311
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multiple epiphyseal dysplasia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:7240710
RGD:8554872

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 5 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 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.