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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:NF1 Microduplication Syndrome
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Accession:DOID:9006211 term browser browse the term
Synonyms:primary_id: MESH:C567173



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      chromosomal duplication syndrome 1104
        NF1 Microduplication Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        Neurologic Manifestations 10017
          sensory system disease 6930
            skin disease 3952
              Skin Abnormalities 1295
                ectodermal dysplasia 539
                  Neurocutaneous Syndromes 359
                    neurofibromatosis 55
                      NF1 Microduplication Syndrome 0
paths to the root