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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:bilateral generalized polymicrogyria
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Accession:DOID:0080920 term browser browse the term
Definition:A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. (DO)



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151016
    disease of anatomical entity 138079
      nervous system disease 75239
        Nervous System Malformations 3272
          complex cortical dysplasia with other brain malformations 2242
            Malformations of Cortical Development, Group III 36
              polymicrogyria 26
                bilateral generalized polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 151016
    Developmental Disease 49425
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 42920
        genetic disease 40697
          monogenic disease 23703
            autosomal genetic disease 22060
              autosomal dominant disease 15032
                complex cortical dysplasia with other brain malformations 2242
                  Malformations of Cortical Development, Group III 36
                    polymicrogyria 26
                      bilateral generalized polymicrogyria 0
paths to the root