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ONTOLOGY REPORT - ANNOTATIONS


Term:complex cortical dysplasia with other brain malformations 6
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Accession:DOID:0090136 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: CDCBM6
 related_synonym: CDCBM56
 primary_id: OMIM:615771
 alt_id: RDO:9001045
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complex cortical dysplasia with other brain malformations 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb5 tubulin, beta 5 class I JBrowse link 20 3,422,448 3,426,420 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          complex cortical dysplasia with other brain malformations 6 1
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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Nervous System Malformations 652
            complex cortical dysplasia with other brain malformations 405
              complex cortical dysplasia with other brain malformations 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.