Cortical dysplasia, complex, with other brain malformations 5

Preferred Label : Cortical dysplasia, complex, with other brain malformations 5;

Symbol : CDCBM5;

CISMeF acronym : CDCBM5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tubulin, beta-2A gene (TUBB2A, 615101.0001);

Prefixed ID : #615763;

Details

Origin ID

615763;

UMLS CUI

C3810407;

Automatic exact mappings (from CISMeF team)
- Complex Cortical Dysplasia with other Brain Malformations 5 [NCIt concept]
CISMeF manual mappings
- complex cortical dysplasia with other brain malformations 5 [DO Concept]
Currated CISMeF NLP mapping
- Complex Cortical Dysplasia with other Brain Malformations 5 [NCIt concept]
DO Cross reference
- complex cortical dysplasia with other brain malformations 5 [DO Concept]
Genes related to phenotype
- Tubulin, beta-2a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cortical dysplasia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Simplified gyral pattern [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complex Cortical Dysplasia with other Brain Malformations 5 [NCIt concept]
- complex cortical dysplasia with other brain malformations 5 [DO Concept]

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