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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 autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (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 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          complex cortical dysplasia with other brain malformations 6 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                complex cortical dysplasia with other brain malformations 477
                  complex cortical dysplasia with other brain malformations 6 1
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