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ONTOLOGY REPORT - ANNOTATIONS


Term:Metaphyseal Chondrodysplasia
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Accession:DOID:9000073 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.


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Metaphyseal Chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col10a1 collagen type X alpha 1 chain JBrowse link 20 41,180,295 41,190,664 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Nt5dc1 5'-nucleotidase domain containing 1 JBrowse link 20 41,106,990 41,209,765 RGD:8554872
G Pth1r parathyroid hormone 1 receptor JBrowse link 8 118,984,531 119,012,803 RGD:8554872
Metaphyseal Chondrodysplasia Spahr Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp13 matrix metallopeptidase 13 JBrowse link 8 5,522,739 5,533,018 RGD:8554872
RGD:7240710
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cwc27 CWC27 spliceosome associated cyclophilin JBrowse link 2 34,716,420 34,923,060 RGD:8554872
RGD:7240710
Schmid metaphyseal chondrodysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col10a1 collagen type X alpha 1 chain JBrowse link 20 41,180,295 41,190,664 RGD:7240710
RGD:8554872
RGD:11554173
G Nt5dc1 5'-nucleotidase domain containing 1 JBrowse link 20 41,106,990 41,209,765 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
          Metaphyseal Chondrodysplasia 6
            Metaphyseal Chondrodysplasia Spahr Type 1
            Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 0
            Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 1
            Metaphyseal Chondrodysplasia, Kaitila Type 0
            Metaphyseal Chondrodysplasia, Pena Type 0
            Schmid metaphyseal chondrodysplasia 2
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
                Metaphyseal Chondrodysplasia 6
                  Metaphyseal Chondrodysplasia Spahr Type 1
                  Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 0
                  Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 1
                  Metaphyseal Chondrodysplasia, Kaitila Type 0
                  Metaphyseal Chondrodysplasia, Pena Type 0
                  Schmid metaphyseal chondrodysplasia 2
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.