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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    disease of anatomical entity 14034
      nervous system disease 12351
        Nervous System Malformations 2335
          complex cortical dysplasia with other brain malformations 1576
            Malformations of Cortical Development, Group III 26
              polymicrogyria 21
                bilateral frontal polymicrogyria 0
Path 2
Term Annotations click to browse term
  disease 14341
    Developmental Disease 12613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        genetic disease 11608
          monogenic disease 9987
            autosomal genetic disease 9592
              autosomal dominant disease 6263
                complex cortical dysplasia with other brain malformations 1576
                  Malformations of Cortical Development, Group III 26
                    polymicrogyria 21
                      bilateral frontal polymicrogyria 0
paths to the root