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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:Asymmetric Polymicrogyria
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Accession:DOID:9003377 term browser browse the term
Synonyms:primary_id: MESH:C567658
 alt_id: RDO:0015673
For additional species annotation, visit the Alliance of Genome Resources.


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Asymmetric Polymicrogyria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb2b tubulin, beta 2B class IIb ISO ClinVar Annotator: match by term: Polymicrogyria, asymmetric ClinVar PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 PMID:25059107 PMID:25741868 PMID:26732629 NCBI chr17:31,441,640...31,444,687
Ensembl chr17:31,441,630...31,482,759
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        Nervous System Malformations 1050
          complex cortical dysplasia with other brain malformations 716
            Malformations of Cortical Development, Group III 20
              Polymicrogyria 14
                Asymmetric Polymicrogyria 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group III 20
                    Polymicrogyria 14
                      Asymmetric Polymicrogyria 1
paths to the root