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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 16p13.3 Deletion Syndrome
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Accession:DOID:9005499 term browser browse the term
Synonyms:exact_synonym: RSTS, Severe;   Rubinstein-Taybi Syndrome, Severe;   proximal chromosome 16p13.3 deletion syndrome
 primary_id: MESH:C566433
 alt_id: OMIM:610543;   RDO:0014786


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      chromosomal deletion syndrome 1493
        Rubinstein-Taybi syndrome 51
          Chromosome 16p13.3 Deletion Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    Rubinstein-Taybi syndrome 51
                      Chromosome 16p13.3 Deletion Syndrome 0
paths to the root