Developmental and Epileptic Encephalopathy 65

Preferred Label : Developmental and Epileptic Encephalopathy 65;

NCIt synonyms : Epileptic Encephalopathy, Early Infantile, 65; EIEE65; DEE65;

NCIt definition : An autosomal dominant form of developmental and epileptic encephalopathy, caused by mutation(s) in the CYFIP2 gene, encoding cytoplasmic FMR1-interacting protein 2.;

NCI Metathesaurus CUI : CL925862;

Details

Origin ID

C201518;

UMLS CUI

C4693925;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 65 [OMIM Phenotype]
- developmental and epileptic encephalopathy 65 [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 65 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients