Complex Cortical Dysplasia With Other Brain Malformations 7
Disease ID: disease_node_20064
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| Dbxref | MIM:610031, ORDO:300573 |
|---|---|
| Subclassof | DOID_0090131 |
| Data Source | DOID |
| Synonyms | CDCBM7, polymicrogyria due to TUBB2B mutation |
| Doid Label | complex cortical dysplasia with other brain malformations 7 |
| Doid Description | A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal domit inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. |
| Disease Node Id | disease_node_20064 |
| Doid Id | DOID_0090132 |
| Label | Complex Cortical Dysplasia With Other Brain Malformations 7 |
- Outgoing r'ship
SUBCLASS_OFto/from Complex Cortical Dysplasia With Other Brain Malformations(ID:disease_node_20057) (Disease)