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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 heterozygous mutation in the KIF5C gene on chromosome 2q23. (DO)
Synonyms:exact_synonym: CDCBM2
 primary_id: OMIM:615282;   RDO:9000891
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          complex cortical dysplasia with other brain malformations 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Nervous System Malformations 657
            complex cortical dysplasia with other brain malformations 416
              complex cortical dysplasia with other brain malformations 2 1
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