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ONTOLOGY REPORT - ANNOTATIONS


Term:complex cortical dysplasia with other brain malformations 5
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Accession:DOID:0090135 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 tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. (DO)
Synonyms:exact_synonym: CDCBM5
 primary_id: OMIM:615763;   RDO:9000740
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complex cortical dysplasia with other brain malformations 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb2a tubulin, beta 2A class IIa JBrowse link 17 31,493,145 31,496,827 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          complex cortical dysplasia with other brain malformations 5 1
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal dominant disease 2713
                complex cortical dysplasia with other brain malformations 524
                  complex cortical dysplasia with other brain malformations 5 1
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