Complex Cortical Dysplasia With Other Brain Malformations 1
Disease ID: disease_node_20059
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| Dbxref | ICD10CM:Q04.3, MIM:614039, ORDO:300570 |
|---|---|
| Subclassof | DOID_0090131 |
| Data Source | DOID |
| Synonyms | CDCBM1, cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation |
| Doid Label | complex cortical dysplasia with other brain malformations 1 |
| Doid Description | A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal domit inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. |
| Disease Node Id | disease_node_20059 |
| Doid Id | DOID_0090137 |
| Label | Complex Cortical Dysplasia With Other Brain Malformations 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Complex Cortical Dysplasia With Other Brain Malformations(ID:disease_node_20057) (Disease)