FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term tubulinopathy ID (Ontology) DOID:0112227 (Human Disease)
Definition A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes.
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monogenic disease
 |__autosomal genetic disease______________
physical disorder                          |
 |__congenital nervous system abnormality__|
nervous system disease                     |
 |__congenital nervous system abnormality__|
                                           tubulinopathy
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Is a autosomal genetic disease
congenital nervous system abnormality
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