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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 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: OMIM:300815



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    syndrome 10749
      chromosomal duplication syndrome 1109
        Chromosome Xq28 Duplication Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21140
    disease of anatomical entity 18187
      nervous system disease 14017
        central nervous system disease 12371
          brain disease 11608
            disease of mental health 8275
              developmental disorder of mental health 5522
                specific developmental disorder 4484
                  intellectual disability 4275
                    Chromosome Xq28 Duplication Syndrome 0
paths to the root