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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 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;   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;   chondrodysplasia with multiple dislocations;   humerospinal dysostosis;   spondyloepiphyseal dysplasia, CHST3-related;   spondyloepiphyseal dysplasia, Omani type
 primary_id: MESH:C535789
 alt_id: OMIM:143095;   RDO:0001096;   RDO:0008006
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, PMID:18513679, PMID:18698629, PMID:19320654, PMID:20830804, PMID:23918704, PMID:25741868, PMID:26402641, PMID:27753269, PMID:28492532, PMID:29453417 NCBI chr20:29,731,828...29,768,656
Ensembl chr20:29,731,816...29,738,506
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia ClinVar PMID:7752132, PMID:8325895, PMID:9101290, PMID:11746045, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      bone development disease 1329
        osteochondrodysplasia 435
          spondyloepiphyseal dysplasia with congenital joint dislocations 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                spondyloepimetaphyseal dysplasia 75
                  spondyloepiphyseal dysplasia with congenital joint dislocations 2
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.