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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;   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;   chondrodysplasia with multiple dislocations;   humero-spinal dysostosis;   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 OMIM:143095
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 17435
    physical disorder 3130
      spondyloepiphyseal dysplasia with congenital joint dislocations 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      musculoskeletal system disease 6483
        connective tissue disease 4452
          bone disease 3126
            bone development disease 1424
              osteochondrodysplasia 481
                spondyloepiphyseal dysplasia 14
                  spondyloepiphyseal dysplasia with congenital joint dislocations 1
paths to the root