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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:complex cortical dysplasia with other brain malformations 3
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Accession:DOID:0090134 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. (DO)
Synonyms:exact_synonym: CDCBM3
 primary_id: OMIM:615411
 alt_id: RDO:9000937
For additional species annotation, visit the Alliance of Genome Resources.



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complex cortical dysplasia with other brain malformations 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by OMIM:615411
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 3
OMIM
ClinVar
PMID:23603762 PMID:25741868 PMID:27747449 PMID:28492532 NCBI chr 2:38,367,998...38,431,237
Ensembl chr 2:38,367,998...38,431,508
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          complex cortical dysplasia with other brain malformations 3 1
Path 2
Term Annotations click to browse term
  disease 17256
    Developmental Disease 10968
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9504
        genetic disease 9008
          monogenic disease 7172
            autosomal genetic disease 6319
              autosomal dominant disease 4482
                complex cortical dysplasia with other brain malformations 1195
                  complex cortical dysplasia with other brain malformations 3 1
paths to the root