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ONTOLOGY REPORT - ANNOTATIONS


Term:complex cortical dysplasia with other brain malformations 1
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Accession:DOID:0090137 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.3. (DO)
Synonyms:exact_synonym: CDCBM1;   cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
 primary_id: OMIM:614039
 alt_id: RDO:9000448
 xref: ORDO:300570
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complex cortical dysplasia with other brain malformations 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb3 tubulin, beta 3 class III JBrowse link 19 56,220,759 56,229,813 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 1 1
Path 2
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 1 1
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