Developmental and Epileptic Encephalopathy 94

Preferred Label : Developmental and Epileptic Encephalopathy 94;

NCIt synonyms : EEOC; Childhood-Onset Epileptic Encephalopathy; DEE94;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CHD2 gene, encoding chromodomain-helicase-DNA-binding protein 2. It is characterized by childhood-onset severe seizures and is associated with a poor prognosis.;

Details

Origin ID

C172100;

UMLS CUI

C3809278;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 94 [OMIM Phenotype]
- childhood onset epileptic encephalopathy [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 94 [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
- CHD2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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