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DO Term : complex cortical dysplasia with other brain malformations 1 [DOID:0090137] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3.

synonyms:
614039,
ORDO:300570,
ICD10CM:Q04.3,
OMIM:614039,
cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,
CDCBM1

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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