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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 4, Trisomy 4q25 qter
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Accession:DOID:9004560 term browser browse the term
Synonyms:exact_synonym: Duplication 4q25 qter;   Trisomy 4q25 qter
 primary_id: MESH:C537646;   RDO:0003522


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    syndrome 9724
      chromosomal duplication syndrome 1136
        Trisomy 333
          Chromosome 4, Trisomy 4q25 qter 0
Path 2
Term Annotations click to browse term
  disease 14229
    Developmental Disease 12517
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11791
        genetic disease 11514
          chromosomal disease 2857
            chromosomal duplication syndrome 1136
              Trisomy 333
                Chromosome 4, Trisomy 4q25 qter 0
paths to the root