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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 PMID:29671837 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 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        Nervous System Malformations 1496
          complex cortical dysplasia with other brain malformations 1163
            Malformations of Cortical Development, Group III 21
              Polymicrogyria 15
                Asymmetric Polymicrogyria 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group III 21
                    Polymicrogyria 15
                      Asymmetric Polymicrogyria 1
paths to the root