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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 2
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Accession:DOID:0090133 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 5C (KIF5C) gene on chromosome 2q23. (DO)
Synonyms:exact_synonym: CDCBM2
 xref: MIM:615282;   MONDO:0014116


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complex cortical dysplasia with other brain malformations 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 2 OMIM
ClinVar		 PMID:23033978 PMID:23603762 PMID:24088041 PMID:24812067 PMID:25741868 More... NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13629
        genetic disease 13304
          complex cortical dysplasia with other brain malformations 2 1
Path 2
Term Annotations click to browse term
  disease 19087
    Developmental Disease 14584
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13629
        genetic disease 13304
          monogenic disease 10684
            autosomal genetic disease 9856
              autosomal dominant disease 6525
                complex cortical dysplasia with other brain malformations 1634
                  complex cortical dysplasia with other brain malformations 2 1
paths to the root