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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia
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Accession:DOID:12721 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (DO)
Synonyms:exact_synonym: polyepiphyseal dysplasia
 related_synonym: multiple epiphyseal dysplasia, dominant
 primary_id: RDO:9002946
 xref: GARD:10756;   OMIM:PS132400;   ORDO:251
For additional species annotation, visit the Alliance of Genome Resources.


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multiple epiphyseal dysplasia 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:8554872
G Col9a2 collagen type IX alpha 2 chain JBrowse link 5 139,962,684 139,979,865 RGD:8554872
G Col9a3 collagen type IX alpha 3 chain JBrowse link 3 176,102,287 176,124,839 RGD:8554872
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:8554872
RGD:13592920
G Matn3 matrilin 3 JBrowse link 6 34,071,428 34,091,048 RGD:8554872
G Tcfl5 transcription factor like 5 JBrowse link 3 176,124,846 176,144,531 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:8554872
multiple epiphyseal dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:7240710
RGD:8554872
RGD:11554173
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 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:13208864
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
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
multiple epiphyseal dysplasia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cant1 calcium activated nucleotidase 1 JBrowse link 10 107,432,500 107,445,634 RGD:8554872
RGD:7240710
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 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 with Miniepiphyses 0
            Multiple Epiphyseal Dysplasia with Myopathy 0
            Multiple Epiphyseal Dysplasia with Robin Phenotype 0
            Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia 0
            multiple epiphyseal dysplasia 1 1
            multiple epiphyseal dysplasia 4 1
            multiple epiphyseal dysplasia 5 1
            multiple epiphyseal dysplasia 7 1
            multiple epiphyseal dysplasia due to collagen 9 anomaly + 3
            multiple epiphyseal dysplasia with myopia and deafness 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                multiple epiphyseal dysplasia 10
                  Multiple Epiphyseal Dysplasia with Miniepiphyses 0
                  Multiple Epiphyseal Dysplasia with Myopathy 0
                  Multiple Epiphyseal Dysplasia with Robin Phenotype 0
                  Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia 0
                  multiple epiphyseal dysplasia 1 1
                  multiple epiphyseal dysplasia 4 1
                  multiple epiphyseal dysplasia 5 1
                  multiple epiphyseal dysplasia 7 1
                  multiple epiphyseal dysplasia due to collagen 9 anomaly + 3
                  multiple epiphyseal dysplasia with myopia and deafness 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.