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Summary Literature (0)
DOID:0090132 - complex cortical dysplasia with other brain malformations 7


Disease Ontology Definition:A complex cortical dysplasia with other brain malformations characterized by autosomal dominant inheritance of abnromalities in coritcal brain development that has_material_basis_in heterozygous mutation in the TUBB2B gene on chromosome 6p25.

Synonyms: CDCBM7, polymicrogyria due to TUBB2B mutation

Xenbase Genes : tubb2b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012399 - complex cortical dysplasia with other brain malformations 7

OMIM:
OMIM:610031 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): complex cortical dysplasia with other brain malformations (is_a)