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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:Spondyloenchondrodysplasia
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Accession:DOID:9007945 term browser browse the term
Synonyms:exact_synonym: Spondyloenchondromatosis;   Spondylometaphyseal dysplasia with enchondromatous changes
 primary_id: MESH:C535782;   RDO:0001086
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloenchondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:21217752 PMID:21217755 NCBI chr 8:23,142,733...23,149,067
Ensembl chr 8:23,142,734...23,148,396
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      primary immunodeficiency disease 2375
        autoimmune disease 1689
          Spondyloenchondrodysplasia 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                Spondyloenchondrodysplasia 1
paths to the root