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DOID:0090132 - complex cortical dysplasia with other brain malformations 7
Disease Ontology 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.
Synonyms: CDCBM7, polymicrogyria due to TUBB2B mutation
Xenbase Genes
:
tubb2b
| MONDO:0012399 - complex cortical dysplasia with other brain malformations 7 |
| MIM:610031 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
complex cortical dysplasia with other brain malformations (is_a)