ONTOLOGY REPORT - ANNOTATIONS


Term:spondyloepiphyseal dysplasia with congenital joint dislocations
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Accession:DOID:0050813 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (DO)
Synonyms:exact_synonym: CDMD;   CHST3-related skeletal dysplasia;   HSD;   HUMEROSPINAL DYSOSTOSIS;   Humero-Spinal Dysostosis;   Humero-spinal dysostosis with congenital heart disease;   Kozlowski Celermajer Tink syndrome;   Omani Type;   Omani type of spondyloepiphyseal dysplasia;   SED with luxations, CHST3 type;   SED, Omani Type;   SEDCJD;   Spondyloepiphyseal Dysplasia;   Spondyloepiphyseal Dysplasia, CHST3-Related;   chondrodysplasia with multiple dislocations;   spondyloepiphyseal dysplasia, Omani type
 primary_id: MESH:C535789
 alt_id: DOID:9000200;   OMIM:143095;   RDO:0001096;   RDO:0008006
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spondyloepiphyseal dysplasia with congenital joint dislocations 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:7240710
RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:8554872
G Trappc2 trafficking protein particle complex 2 JBrowse link X 29,550,871 29,562,135 RGD:8554872

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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      bone development disease 896
        osteochondrodysplasia 406
          spondyloepiphyseal dysplasia with congenital joint dislocations 3
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      musculoskeletal system disease 4002
        connective tissue disease 2587
          bone disease 2126
            bone development disease 896
              osteochondrodysplasia 406
                spondyloepimetaphyseal dysplasia 58
                  spondyloepiphyseal dysplasia with congenital joint dislocations 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.