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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 5, Uniparental Disomy
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Accession:DOID:9003957 term browser browse the term
Synonyms:exact_synonym: Mosaic trisomy of chromosome 5;   Uniparental disomy of 5
 primary_id: MESH:C537762;   RDO:0003660
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      chromosomal duplication syndrome 746
        Trisomy 106
          Chromosome 5, Uniparental Disomy 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    Cri-du-Chat syndrome 7
                      Chromosome 5, Uniparental Disomy 0
paths to the root