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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:0112282 term browser browse the term
Definition:A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. (DO)
Synonyms:exact_synonym: SEDK
 primary_id: MESH:C564252
 alt_id: DOID:9002341;   OMIM:608361
 xref: ORDO:93283


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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 term: Spondyloepiphyseal dysplasia, Kimberley type OMIM
ClinVar		 PMID:16080123 PMID:25741868 PMID:28492532 NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    Developmental Disease 13236
      bone development disease 2252
        osteochondrodysplasia 852
          spondyloepiphyseal dysplasia 17
            spondyloepiphyseal dysplasia Kimberley type 1
Path 2
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14908
      musculoskeletal system disease 7701
        connective tissue disease 5253
          bone disease 3815
            bone development disease 2252
              osteochondrodysplasia 852
                spondyloepiphyseal dysplasia 17
                  spondyloepiphyseal dysplasia Kimberley type 1
paths to the root