Developmental and Epileptic Encephalopathy 42

Preferred Label : Developmental and Epileptic Encephalopathy 42;

NCIt synonyms : Epileptic Encephalopathy, Early Infantile, 42; EIEE42; DEE42;

NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A.;

NCI Metathesaurus CUI : CL602142;

Details

Origin ID

C188142;

UMLS CUI

C4310716;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 42 [OMIM Phenotype]
- developmental and epileptic encephalopathy 42 [DO Concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and epileptic encephalopathy 42 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- CACNA1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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