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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:Pacman Dysplasia
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Accession:DOID:9004619 term browser browse the term
Synonyms:exact_synonym: Epiphyseal stippling with osteoclastic hyperplasia;   Pacman syndrome
 primary_id: MESH:C538095
 alt_id: OMIM:167220
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 12822
    syndrome 6219
      chondrodysplasia punctata 6
        Pacman Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 12822
    disease of anatomical entity 12355
      musculoskeletal system disease 4740
        connective tissue disease 3132
          bone disease 2545
            bone development disease 1291
              osteochondrodysplasia 427
                chondrodysplasia punctata 6
                  Pacman Dysplasia 0
paths to the root