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RGD uses the Human Disease Ontology (DO, 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 Xq28 Duplication Syndrome
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Accession:DOID:9005521 term browser browse the term
Synonyms:exact_synonym: Gdi1 Duplication Syndrome
 primary_id: MESH:C567580
 alt_id: RDO:0015627
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 17251
    syndrome 8148
      chromosomal duplication syndrome 755
        Chromosome Xq28 Duplication Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            disease of mental health 7060
              developmental disorder of mental health 4403
                specific developmental disorder 3662
                  intellectual disability 3473
                    Chromosome Xq28 Duplication Syndrome 0
paths to the root