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Pathways

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:X Chromosome, Trisomy Xp3
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Accession:DOID:9000833 term browser browse the term
Synonyms:exact_synonym: Duplication Xp3;   Trisomy Xp3
 primary_id: MESH:C536756;   RDO:0002436


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16461
    syndrome 9368
      chromosomal duplication syndrome 1146
        Trisomy 331
          X Chromosome, Trisomy Xp3 0
Path 2
Term Annotations click to browse term
  disease 16461
    Developmental Disease 16366
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16305
        Congenital Abnormalities 6913
          chromosomal disease 2614
            chromosomal duplication syndrome 1146
              Trisomy 331
                X Chromosome, Trisomy Xp3 0
paths to the root