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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 13019
    disease of anatomical entity 12700
      nervous system disease 10554
        Nervous System Malformations 1588
          complex cortical dysplasia with other brain malformations 1166
            Malformations of Cortical Development, Group III 22
              polymicrogyria 17
                bilateral generalized polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 13019
    Developmental Disease 9855
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8576
        genetic disease 8137
          monogenic disease 6632
            autosomal genetic disease 5891
              autosomal dominant disease 4184
                complex cortical dysplasia with other brain malformations 1166
                  Malformations of Cortical Development, Group III 22
                    polymicrogyria 17
                      bilateral generalized polymicrogyria 0
paths to the root