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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:Achondroplasia and Swiss Type Agammaglobulinemia
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Accession:DOID:9008779 term browser browse the term
Synonyms:exact_synonym: Agammaglobulinaemia and achondroplasia
 primary_id: MESH:C536020
 alt_id: RDO:0001430
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 12693
    syndrome 6155
      primary immunodeficiency disease 1936
        lymphoproliferative syndrome 615
          agammaglobulinemia 58
            Achondroplasia and Swiss Type Agammaglobulinemia 0
Path 2
Term Annotations click to browse term
  disease 12693
    disease of anatomical entity 12233
      Skin and Connective Tissue Diseases 4257
        connective tissue disease 3107
          bone disease 2518
            bone development disease 1278
              Dwarfism 471
                achondroplasia 7
                  Achondroplasia and Swiss Type Agammaglobulinemia 0
paths to the root