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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, Kimberley Type
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Accession:DOID:9002341 term browser browse the term
Synonyms:exact_synonym: SEDK
 primary_id: MESH:C564252;   RDO:0013278
 alt_id: OMIM:608361
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloepiphyseal Dysplasia, Kimberley Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO ClinVar Annotator: match by OMIM:608361
DNA:frameshift mutation:exon
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, kimberley type
OMIM
ClinVar
PMID:16080123, PMID:25741868, PMID:16080123 RGD:11570524 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Spondyloepiphyseal Dysplasia, Kimberley Type 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                Spondyloepiphyseal Dysplasia, Kimberley Type 1
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.