Developmental and Epileptic Encephalopathy 14

Preferred Label : Developmental and Epileptic Encephalopathy 14;

NCIt synonyms : Epileptic Encephalopathy, Early Infantile, 14; EIEE14; DEE14;

NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the KCNT1 gene, encoding potassium channel subfamily T member 1.;

Details

Origin ID

C188141;

UMLS CUI

C3554195;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 14 [OMIM Phenotype]
- developmental and epileptic encephalopathy 14 [DO Concept]
Has associated anatomic sites
- 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 14 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- KCNT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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