FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term complex cortical dysplasia with other brain malformations 7 ID (Ontology) DOID:0090132 (Human Disease)
Definition A complex cortical dysplasia with other brain malformations that is characterized by abnormalities 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.
Also Known As "CDCBM7" ; "polymicrogyria due to TUBB2B mutation"
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 complex cortical dysplasia with other brain malformations 7       2
 for disease ribbon | complex cortical dysplasia with other brain malformations 7       2
 model of | complex cortical dysplasia with other brain malformations 7       2
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autosomal genetic disease
 |__autosomal dominant disease_________________________________
brain disease                                                  |
 |__complex cortical dysplasia with other brain malformations__|
                                                               complex cortical dysplasia with other brain malformations 7  2 rec.
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Is a autosomal dominant disease
complex cortical dysplasia with other brain malformations
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Synonyms
  • "CDCBM7" EXACT OMO:0003012
    "polymicrogyria due to TUBB2B mutation" EXACT
Secondary IDs
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MIM:610031
ORDO:300573