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 heterozygous mutation in the 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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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          complex cortical dysplasia with other brain malformations 5 1
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Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Nervous System Malformations 664
            complex cortical dysplasia with other brain malformations 420
              complex cortical dysplasia with other brain malformations 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.