Complex Cortical Dysplasia with other Brain Malformations 5

Preferred Label : Complex Cortical Dysplasia with other Brain Malformations 5;

NCIt synonyms : TUBB2A Tubulinopathy; CDCBM5;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the TUBB2A gene, encoding tubulin beta-2A chain. It is characterized by cortical dysplasia and is associated with impaired intellectual development, hypotonia, global developmental delay, cortical dysplasia, and dysmorphic corpus callosum.;

Details

Origin ID

C189285;

UMLS CUI

C3810407;

Automatic exact mappings (from CISMeF team)
- Cortical dysplasia, complex, with other brain malformations 5 [OMIM Phenotype]
- complex cortical dysplasia with other brain malformations 5 [DO Concept]
Currated CISMeF NLP mapping
- Cortical dysplasia, complex, with other brain malformations 5 [OMIM Phenotype]
- complex cortical dysplasia with other brain malformations 5 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cortical dysplasia, complex, with other brain malformations 5 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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