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General Information
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| Term |
complex cortical dysplasia with other brain malformations 1 |
ID (Ontology) |
DOID:0090137 (Human Disease) |
| Definition |
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. |
| Also Known As |
"CDCBM1" ; "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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complex cortical dysplasia with other brain malformations 1 | 5 | for disease ribbon | complex cortical dysplasia with other brain malformations 1 | 5 | model of | complex cortical dysplasia with other brain malformations 1 | 5 |
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Relationships