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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:Abnormal Cortical Gyration
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Accession:DOID:9005501 term browser browse the term
Synonyms:primary_id: RDO:9000782
For additional species annotation, visit the Alliance of Genome Resources.


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Abnormal Cortical Gyration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Abnormal cortical gyration ClinVar PMID:18414213 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        Nervous System Malformations 1102
          complex cortical dysplasia with other brain malformations 754
            Abnormal Cortical Gyration 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Abnormal Cortical Gyration 1
paths to the root