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ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: OMIM:615282;   RDO:9000891
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complex cortical dysplasia with other brain malformations 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          complex cortical dysplasia with other brain malformations 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  complex cortical dysplasia with other brain malformations 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.