Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia 5
go back to main search page
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;   bilateral hereditary microepiphyseal dysplasia;   multiple epiphyseal dysplasia, MATN3-related
 primary_id: MESH:C535505
 alt_id: OMIM:607078;   RDO:0000647
 xref: GARD:9794;   ORDO:93311
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 0
    Developmental Diseases 8822
      bone development disease 1006
        osteochondrodysplasia 414
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia 5 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      musculoskeletal system disease 4321
        connective tissue disease 2793
          bone disease 2244
            bone development disease 1006
              osteochondrodysplasia 414
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia 5 1
paths to the root

NHLBI Logo

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