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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:Chromosome 20, Trisomy
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Accession:DOID:9007886 term browser browse the term
Synonyms:exact_synonym: Chromosome 20 duplication;   Trisomy 20;   Trisomy 20 mosaicism
 primary_id: MESH:C535372;   RDO:0000454
 xref: NCI:C36397



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      chromosomal duplication syndrome 1107
        Trisomy 370
          Chromosome 20, Trisomy 0
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          chromosomal disease 2733
            chromosomal duplication syndrome 1107
              Trisomy 370
                Chromosome 20, Trisomy 0
paths to the root