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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 frontal polymicrogyria
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Accession:DOID:0080921 term browser browse the term
Definition:A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. (DO)
Synonyms:xref: GARD:10783;   ORDO:208444

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Path 1
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        Nervous System Malformations 2372
          complex cortical dysplasia with other brain malformations 1600
            Malformations of Cortical Development, Group III 28
              polymicrogyria 22
                bilateral frontal polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 14641
    Developmental Disease 12849
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12093
        genetic disease 11814
          monogenic disease 10162
            autosomal genetic disease 9757
              autosomal dominant disease 6350
                complex cortical dysplasia with other brain malformations 1600
                  Malformations of Cortical Development, Group III 28
                    polymicrogyria 22
                      bilateral frontal polymicrogyria 0
paths to the root