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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:spondyloepiphyseal dysplasia with congenital joint dislocations
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Accession:DOID:0050813 term browser browse the term
Definition:A spondyloepiphyseal 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;   Kozlowski Celermajer Tink syndrome;   Omani Type;   Omani type of spondyloepiphyseal dysplasia;   SED with luxations, CHST3 type;   SED, Omani type;   SEDCJD;   chondrodysplasia with multiple dislocations;   humero-spinal dysostosis;   humero-spinal dysostosis with congenital heart disease;   humerospinal dysostosis;   spondyloepiphyseal dysplasia;   spondyloepiphyseal dysplasia, CHST3-related;   spondyloepiphyseal dysplasia, Omani type
 primary_id: MESH:C535789
 alt_id: OMIM:143095

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spondyloepiphyseal dysplasia with congenital joint dislocations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations OMIM
ClinVar		 PMID:112567 PMID:9039660 PMID:15098240 PMID:15215498 PMID:15368507 More... NCBI chrNW_004955437:19,563,645...19,605,747
Ensembl chrNW_004955437:19,563,088...19,569,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      spondyloepiphyseal dysplasia with congenital joint dislocations 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7251
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2150
              osteochondrodysplasia 827
                spondyloepiphyseal dysplasia 16
                  spondyloepiphyseal dysplasia with congenital joint dislocations 1
paths to the root