Developmental and Epileptic Encephalopathy 4

Preferred Label : Developmental and Epileptic Encephalopathy 4;

NCIt synonyms : EIEE4; DEE4; Early Infantile Epileptic Encephalopathy 4;

NCIt definition : An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the STXBP1 gene, encoding syntaxin-binding protein 1.;

Details

Origin ID

C162472;

UMLS CUI

C2677326;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 4 [OMIM Phenotype]
- Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 4 [DO Concept]
- early infantile epileptic encephalopathy 4 [Disease (Nov.)]
- epileptic encephalopathy, early infantile, 4 [MeSH Supplementary Concept]
- epileptic encephalopathy, early infantile, 4 [MeSH 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 4 [OMIM Phenotype]
- Syntaxin binding protein 1 encephalopathy with epilepsy (disorder) [SNOMED CT concept]
- early infantile epileptic encephalopathy 4 [Disease (Nov.)]
- epileptic encephalopathy, early infantile, 4 [MeSH Supplementary Concept]
- epileptic encephalopathy, early infantile, 4 [MeSH concept]
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
- STXBP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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