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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 13473
    syndrome 6580
      primary immunodeficiency disease 2085
        lymphoproliferative syndrome 664
          agammaglobulinemia 67
            Achondroplasia and Swiss Type Agammaglobulinemia 0
Path 2
Term Annotations click to browse term
  disease 13473
    disease of anatomical entity 12955
      Skin and Connective Tissue Diseases 4476
        connective tissue disease 3270
          bone disease 2629
            bone development disease 1320
              Dwarfism 492
                achondroplasia 11
                  Achondroplasia and Swiss Type Agammaglobulinemia 0
paths to the root