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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 Xp11.23-p11.22 duplication syndrome
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Accession:DOID:0060461 term browser browse the term
Definition:A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. (DO)
Synonyms:exact_synonym: microduplication Xp11.22-p11.23 syndrome;   trisomy Xp11.22-p11.23
 primary_id: MESH:C567585
 alt_id: OMIM:300801
 xref: ICD10CM:Q99.8;   ORDO:217377


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Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      chromosomal duplication syndrome 1120
        chromosome Xp11.23-p11.22 duplication syndrome 0
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              Neurodevelopmental Disorders 6891
                Developmental Disabilities 790
                  chromosome Xp11.23-p11.22 duplication syndrome 0
paths to the root