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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:Spondyloepimetaphyseal Dysplasia, Krakow Type
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Accession:DOID:9009268 term browser browse the term
Synonyms:exact_synonym: IMMUNOOSSEOUS DYSPLASIA, KRAKOW TYPE;   SEMDK
 primary_id: OMIM:618162
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloepimetaphyseal Dysplasia, Krakow Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIK3 SIK family kinase 3 ISO OMIM NCBI chr 5:16,623,756...16,733,259
Ensembl chr 5:16,527,504...16,733,243
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12680
    Developmental Diseases 8959
      bone development disease 1305
        osteochondrodysplasia 422
          spondyloepimetaphyseal dysplasia 76
            Spondyloepimetaphyseal Dysplasia, Krakow Type 1
Path 2
Term Annotations click to browse term
  disease 12680
    disease of anatomical entity 12218
      musculoskeletal system disease 5177
        connective tissue disease 3596
          bone disease 3072
            bone development disease 1305
              osteochondrodysplasia 422
                spondyloepimetaphyseal dysplasia 76
                  Spondyloepimetaphyseal Dysplasia, Krakow 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.