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ONTOLOGY REPORT - ANNOTATIONS


Term:complex cortical dysplasia with other brain malformations 7
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Accession:DOID:0090132 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations that is characterized by abnromalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. (DO)
Synonyms:exact_synonym: CDCBM7;   PMGYSA;   POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC;   polymicrogyria due to TUBB2B mutation
 primary_id: OMIM:610031
 alt_id: RDO:0009372
 xref: GARD:10783;   ORDO:208444;   ORDO:300573
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complex cortical dysplasia with other brain malformations 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb2b tubulin, beta 2B class IIb JBrowse link 17 31,441,640 31,444,687 RGD:7240710

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Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          complex cortical dysplasia with other brain malformations 7 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                complex cortical dysplasia with other brain malformations 527
                  complex cortical dysplasia with other brain malformations 7 1
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