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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)
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 20286
    disease of anatomical entity 18890
      nervous system disease 14866
        Nervous System Malformations 1781
          complex cortical dysplasia with other brain malformations 1285
            Malformations of Cortical Development, Group III 25
              polymicrogyria 18
                bilateral generalized polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 20286
    Developmental Disease 13804
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11311
        genetic disease 10773
          monogenic disease 8666
            autosomal genetic disease 7576
              autosomal dominant disease 5364
                complex cortical dysplasia with other brain malformations 1285
                  Malformations of Cortical Development, Group III 25
                    polymicrogyria 18
                      bilateral generalized polymicrogyria 0
paths to the root