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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


show annotations for term's descendants           Sort by:
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:11175293 PMID:18414213 PMID:23365099 PMID:28492532 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Abnormal cortical gyration ClinVar PMID:25741868 NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Abnormal cortical gyration ClinVar PMID:25741868 PMID:28492532 PMID:35229910 NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      nervous system disease 14255
        Nervous System Malformations 2450
          complex cortical dysplasia with other brain malformations 1633
            Abnormal Cortical Gyration 3
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        genetic disease 13198
          monogenic disease 10701
            autosomal genetic disease 9873
              autosomal dominant disease 6529
                complex cortical dysplasia with other brain malformations 1633
                  Abnormal Cortical Gyration 3
paths to the root