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

ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia due to collagen 9 anomaly
go back to main search page
Accession:DOID:0070305 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). (DO)
Synonyms:narrow_synonym: COL9A2-RELATED DISORDER
 xref: ORDO:166002
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
multiple epiphyseal dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:7240710
RGD:8554872
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
multiple epiphyseal dysplasia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col9a1 collagen type IX alpha 1 chain JBrowse link 9 30,419,001 30,502,307 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      bone development disease 996
        osteochondrodysplasia 410
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia due to collagen 9 anomaly 3
              multiple epiphyseal dysplasia 2 1
              multiple epiphyseal dysplasia 3 1
              multiple epiphyseal dysplasia 6 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      musculoskeletal system disease 4281
        connective tissue disease 2779
          bone disease 2232
            bone development disease 996
              osteochondrodysplasia 410
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia due to collagen 9 anomaly 3
                    multiple epiphyseal dysplasia 2 1
                    multiple epiphyseal dysplasia 3 1
                    multiple epiphyseal dysplasia 6 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.