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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr20:28,114,387...28,152,046
Ensembl chr20:28,114,404...28,121,807
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      spondyloepiphyseal dysplasia with congenital joint dislocations 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              osteochondrodysplasia 614
                spondyloepiphyseal dysplasia 16
                  spondyloepiphyseal dysplasia with congenital joint dislocations 1
paths to the root