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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:Astley-Kendall Syndrome
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Accession:DOID:9000437 term browser browse the term
Synonyms:exact_synonym: Astley-Kendall dysplasia;   Short limbed dwarfism with extensive stippling
 primary_id: MESH:C535392;   RDO:0000488
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      Astley-Kendall Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        connective tissue disease 4135
          bone disease 3505
            bone development disease 1305
              osteochondrodysplasia 442
                chondrodysplasia punctata 7
                  Astley-Kendall Syndrome 0
paths to the root