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chromosome 17q21.31 duplication syndrome - Ontology Report - Rat Genome Database

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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 17q21.31 duplication syndrome
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Accession:DOID:0060434 term browser browse the term
Definition:A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. (DO)
Synonyms:exact_synonym: 17q21.31 microduplication syndrome;   trisomy 17q21.31
 primary_id: MIM:613533
 xref: ICD10CM:Q92.3;   ORDO:217340

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Path 1
Term Annotations click to browse term
  disease 292546
    syndrome 133709
      chromosomal duplication syndrome 13397
        chromosome 17q21.31 duplication syndrome 0
Path 2
Term Annotations click to browse term
  disease 292546
    Developmental Disease 170869
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156702
        genetic disease 151825
          chromosomal disease 35533
            chromosomal duplication syndrome 13397
              chromosome 17q21.31 duplication syndrome 0
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