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ONTOLOGY REPORT - ANNOTATIONS


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
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complex cortical dysplasia with other brain malformations 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif2a kinesin family member 2A JBrowse link 2 38,145,507 38,208,765 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          complex cortical dysplasia with other brain malformations 3 1
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                complex cortical dysplasia with other brain malformations 524
                  complex cortical dysplasia with other brain malformations 3 1
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