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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:9000975 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 ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE ClinVar
OMIM
PMID:30232230 NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      bone development disease 1424
        osteochondrodysplasia 481
          spondyloepimetaphyseal dysplasia 77
            Spondyloepimetaphyseal Dysplasia, Krakow Type 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
                spondyloepimetaphyseal dysplasia 77
                  Spondyloepimetaphyseal Dysplasia, Krakow Type 1
paths to the root