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ONTOLOGY REPORT - ANNOTATIONS


Term:spondyloepiphyseal dysplasia congenita
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Accession:DOID:14789 term browser browse the term
Synonyms:exact_synonym: SED Congenita;   SEDC;   SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT;   Sed, Congenital Type;   Spondyloepiphyseal dysplasia, congenital type
 primary_id: MESH:C535788
 alt_id: OMIM:183900;   RDO:0001095
 xref: GARD:4987
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spondyloepiphyseal dysplasia congenita term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:729929
RGD:8657353
RGD:11667105
G Hapln1 hyaluronan and proteoglycan link protein 1 JBrowse link 2 18,354,542 18,419,077 RGD:13592920
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      bone development disease 1259
        osteochondrodysplasia 430
          spondyloepimetaphyseal dysplasia 75
            spondyloepiphyseal dysplasia congenita 4
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      musculoskeletal system disease 5532
        connective tissue disease 4002
          bone disease 3466
            bone development disease 1259
              osteochondrodysplasia 430
                spondyloepimetaphyseal dysplasia 75
                  spondyloepiphyseal dysplasia congenita 4
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.